Incidental Mutation 'R1479:Clca4b'
| ID |
164182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clca4b
|
| Ensembl Gene |
ENSMUSG00000074195 |
| Gene Name |
chloride channel accessory 4B |
| Synonyms |
AI747448 |
| MMRRC Submission |
039532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1479 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
144616682-144638290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144621229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 615
(V615E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098549]
|
| AlphaFold |
Q3UW98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098549
AA Change: V615E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: V615E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
306 |
480 |
1.03e-15 |
SMART |
|
Blast:VWA
|
513 |
552 |
6e-16 |
BLAST |
|
Blast:FN3
|
757 |
838 |
5e-35 |
BLAST |
|
low complexity region
|
882 |
906 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
96% (81/84) |
| MGI Phenotype |
PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozyogus mutant null mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
T |
A |
9: 50,652,601 (GRCm39) |
T58S |
possibly damaging |
Het |
| Alox12e |
A |
G |
11: 70,211,608 (GRCm39) |
V252A |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,044,874 (GRCm39) |
D344G |
probably damaging |
Het |
| Atg14 |
A |
T |
14: 47,784,696 (GRCm39) |
|
probably null |
Het |
| Bcr |
G |
T |
10: 74,896,957 (GRCm39) |
E34* |
probably null |
Het |
| Birc6 |
C |
T |
17: 74,941,848 (GRCm39) |
T2728M |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,201,059 (GRCm39) |
N326K |
probably benign |
Het |
| Brme1 |
C |
A |
8: 84,889,026 (GRCm39) |
T123K |
possibly damaging |
Het |
| Ccdc188 |
A |
C |
16: 18,037,154 (GRCm39) |
T242P |
possibly damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cdin1 |
T |
A |
2: 115,469,494 (GRCm39) |
N74K |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,541,985 (GRCm39) |
E374D |
probably benign |
Het |
| Clcnka |
C |
A |
4: 141,116,758 (GRCm39) |
A498S |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,282 (GRCm39) |
C1450R |
probably damaging |
Het |
| Cul7 |
C |
A |
17: 46,962,673 (GRCm39) |
D101E |
probably damaging |
Het |
| Cyp27b1 |
G |
A |
10: 126,887,580 (GRCm39) |
|
probably null |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,137 (GRCm39) |
S404P |
probably damaging |
Het |
| Dclk3 |
G |
A |
9: 111,297,614 (GRCm39) |
S386N |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,854,953 (GRCm39) |
D1953N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,303,596 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,711,314 (GRCm39) |
N241D |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,279 (GRCm39) |
F312S |
probably damaging |
Het |
| Esp34 |
T |
A |
17: 38,865,219 (GRCm39) |
|
probably benign |
Het |
| Foxd2 |
T |
A |
4: 114,765,115 (GRCm39) |
T302S |
unknown |
Het |
| Fzd6 |
A |
T |
15: 38,894,394 (GRCm39) |
N187Y |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,241,930 (GRCm39) |
|
probably benign |
Het |
| Gna14 |
T |
C |
19: 16,511,133 (GRCm39) |
S61P |
possibly damaging |
Het |
| Grap |
A |
T |
11: 61,551,124 (GRCm39) |
Y52F |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
| Hax1 |
C |
A |
3: 89,903,164 (GRCm39) |
E212D |
probably damaging |
Het |
| Hecw1 |
A |
C |
13: 14,491,077 (GRCm39) |
S638R |
probably benign |
Het |
| Hira |
A |
T |
16: 18,715,219 (GRCm39) |
K39M |
probably damaging |
Het |
| Hoxa2 |
T |
A |
6: 52,140,320 (GRCm39) |
D222V |
probably damaging |
Het |
| Hycc2 |
T |
A |
1: 58,591,427 (GRCm39) |
R91* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,191 (GRCm39) |
V658M |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,233,242 (GRCm39) |
S762T |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,669,024 (GRCm39) |
C267S |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,481,058 (GRCm39) |
N250S |
probably benign |
Het |
| Lbp |
T |
C |
2: 158,161,634 (GRCm39) |
L232S |
probably damaging |
Het |
| Lcn9 |
A |
T |
2: 25,713,715 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
A |
G |
11: 34,025,068 (GRCm39) |
H213R |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,507,599 (GRCm39) |
K367* |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,067 (GRCm39) |
I246V |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mst1r |
T |
C |
9: 107,790,544 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,733,020 (GRCm39) |
E909G |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,773 (GRCm39) |
D1006E |
probably benign |
Het |
| Or4k5 |
C |
A |
14: 50,386,245 (GRCm39) |
V29F |
probably benign |
Het |
| Or5d37 |
A |
G |
2: 87,923,630 (GRCm39) |
F217L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,058 (GRCm39) |
I29F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,945,402 (GRCm39) |
I2220V |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,652,052 (GRCm39) |
I99N |
probably damaging |
Het |
| Pi4ka |
C |
T |
16: 17,191,264 (GRCm39) |
G211D |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,814,883 (GRCm39) |
S614G |
probably benign |
Het |
| Prdx6 |
G |
A |
1: 161,071,833 (GRCm39) |
A111V |
probably damaging |
Het |
| Prorp |
T |
A |
12: 55,426,172 (GRCm39) |
D138E |
probably damaging |
Het |
| Prss51 |
G |
A |
14: 64,333,619 (GRCm39) |
|
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,819 (GRCm38) |
|
probably benign |
Het |
| Pten |
T |
A |
19: 32,797,250 (GRCm39) |
L345Q |
probably damaging |
Het |
| Qrich2 |
T |
G |
11: 116,332,311 (GRCm39) |
H2295P |
probably benign |
Het |
| Rgs11 |
T |
C |
17: 26,427,257 (GRCm39) |
|
probably null |
Het |
| Rgs6 |
A |
G |
12: 83,163,018 (GRCm39) |
E408G |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,244 (GRCm39) |
R206L |
probably damaging |
Het |
| Slc38a7 |
T |
C |
8: 96,575,122 (GRCm39) |
T53A |
probably benign |
Het |
| Spata31g1 |
A |
C |
4: 42,972,543 (GRCm39) |
K625N |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,909 (GRCm39) |
C1957R |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,153,019 (GRCm39) |
Y123C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,771,233 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
C |
A |
9: 119,786,013 (GRCm39) |
D670E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,574,855 (GRCm39) |
V25346A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,153,151 (GRCm39) |
T2070A |
possibly damaging |
Het |
| Vmn2r57 |
C |
A |
7: 41,077,254 (GRCm39) |
W304L |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,727,478 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
A |
G |
15: 76,795,403 (GRCm39) |
V419A |
possibly damaging |
Het |
|
| Other mutations in Clca4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Clca4b
|
APN |
3 |
144,638,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00391:Clca4b
|
APN |
3 |
144,621,322 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00576:Clca4b
|
APN |
3 |
144,631,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Clca4b
|
APN |
3 |
144,633,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01539:Clca4b
|
APN |
3 |
144,631,918 (GRCm39) |
missense |
probably benign |
|
|
IGL01726:Clca4b
|
APN |
3 |
144,634,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Clca4b
|
APN |
3 |
144,634,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01967:Clca4b
|
APN |
3 |
144,633,951 (GRCm39) |
splice site |
probably benign |
|
|
IGL02002:Clca4b
|
APN |
3 |
144,638,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02323:Clca4b
|
APN |
3 |
144,619,082 (GRCm39) |
missense |
probably benign |
|
|
IGL02379:Clca4b
|
APN |
3 |
144,627,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02638:Clca4b
|
APN |
3 |
144,631,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02859:Clca4b
|
APN |
3 |
144,617,800 (GRCm39) |
missense |
probably benign |
|
|
R0110:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Clca4b
|
UTSW |
3 |
144,628,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0311:Clca4b
|
UTSW |
3 |
144,638,257 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0348:Clca4b
|
UTSW |
3 |
144,627,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0450:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Clca4b
|
UTSW |
3 |
144,619,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Clca4b
|
UTSW |
3 |
144,627,717 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0551:Clca4b
|
UTSW |
3 |
144,634,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Clca4b
|
UTSW |
3 |
144,622,536 (GRCm39) |
missense |
probably benign |
|
|
R0570:Clca4b
|
UTSW |
3 |
144,631,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0591:Clca4b
|
UTSW |
3 |
144,621,353 (GRCm39) |
nonsense |
probably null |
|
|
R0627:Clca4b
|
UTSW |
3 |
144,634,020 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0729:Clca4b
|
UTSW |
3 |
144,634,111 (GRCm39) |
splice site |
probably benign |
|
|
R0844:Clca4b
|
UTSW |
3 |
144,622,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0964:Clca4b
|
UTSW |
3 |
144,621,337 (GRCm39) |
missense |
probably benign |
|
|
R1388:Clca4b
|
UTSW |
3 |
144,622,415 (GRCm39) |
missense |
probably benign |
|
|
R1603:Clca4b
|
UTSW |
3 |
144,627,780 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2045:Clca4b
|
UTSW |
3 |
144,630,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Clca4b
|
UTSW |
3 |
144,634,348 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2185:Clca4b
|
UTSW |
3 |
144,634,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Clca4b
|
UTSW |
3 |
144,616,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2300:Clca4b
|
UTSW |
3 |
144,622,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2321:Clca4b
|
UTSW |
3 |
144,638,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2359:Clca4b
|
UTSW |
3 |
144,631,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3105:Clca4b
|
UTSW |
3 |
144,622,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3151:Clca4b
|
UTSW |
3 |
144,621,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3158:Clca4b
|
UTSW |
3 |
144,617,878 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3177:Clca4b
|
UTSW |
3 |
144,617,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3277:Clca4b
|
UTSW |
3 |
144,617,120 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3981:Clca4b
|
UTSW |
3 |
144,631,797 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4601:Clca4b
|
UTSW |
3 |
144,632,945 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4646:Clca4b
|
UTSW |
3 |
144,634,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4647:Clca4b
|
UTSW |
3 |
144,634,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4696:Clca4b
|
UTSW |
3 |
144,617,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4893:Clca4b
|
UTSW |
3 |
144,630,934 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4998:Clca4b
|
UTSW |
3 |
144,621,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Clca4b
|
UTSW |
3 |
144,616,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5060:Clca4b
|
UTSW |
3 |
144,617,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Clca4b
|
UTSW |
3 |
144,630,940 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5409:Clca4b
|
UTSW |
3 |
144,622,452 (GRCm39) |
nonsense |
probably null |
|
|
R5534:Clca4b
|
UTSW |
3 |
144,621,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Clca4b
|
UTSW |
3 |
144,638,196 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5667:Clca4b
|
UTSW |
3 |
144,627,624 (GRCm39) |
missense |
probably benign |
|
|
R5671:Clca4b
|
UTSW |
3 |
144,627,624 (GRCm39) |
missense |
probably benign |
|
|
R5715:Clca4b
|
UTSW |
3 |
144,619,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5875:Clca4b
|
UTSW |
3 |
144,628,650 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5876:Clca4b
|
UTSW |
3 |
144,617,821 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6122:Clca4b
|
UTSW |
3 |
144,631,927 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6294:Clca4b
|
UTSW |
3 |
144,630,946 (GRCm39) |
missense |
probably null |
|
|
R6408:Clca4b
|
UTSW |
3 |
144,625,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Clca4b
|
UTSW |
3 |
144,633,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6458:Clca4b
|
UTSW |
3 |
144,617,088 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6536:Clca4b
|
UTSW |
3 |
144,622,490 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6567:Clca4b
|
UTSW |
3 |
144,638,100 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6781:Clca4b
|
UTSW |
3 |
144,628,562 (GRCm39) |
missense |
probably benign |
|
|
R6799:Clca4b
|
UTSW |
3 |
144,621,388 (GRCm39) |
splice site |
probably null |
|
|
R7046:Clca4b
|
UTSW |
3 |
144,621,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Clca4b
|
UTSW |
3 |
144,628,529 (GRCm39) |
missense |
not run |
|
|
R7431:Clca4b
|
UTSW |
3 |
144,616,894 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7462:Clca4b
|
UTSW |
3 |
144,628,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Clca4b
|
UTSW |
3 |
144,627,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7806:Clca4b
|
UTSW |
3 |
144,638,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7918:Clca4b
|
UTSW |
3 |
144,619,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Clca4b
|
UTSW |
3 |
144,622,421 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7990:Clca4b
|
UTSW |
3 |
144,634,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Clca4b
|
UTSW |
3 |
144,638,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8327:Clca4b
|
UTSW |
3 |
144,627,762 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8370:Clca4b
|
UTSW |
3 |
144,631,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8434:Clca4b
|
UTSW |
3 |
144,631,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8493:Clca4b
|
UTSW |
3 |
144,617,911 (GRCm39) |
missense |
probably benign |
|
|
R9027:Clca4b
|
UTSW |
3 |
144,617,827 (GRCm39) |
nonsense |
probably null |
|
|
R9211:Clca4b
|
UTSW |
3 |
144,638,214 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9371:Clca4b
|
UTSW |
3 |
144,631,845 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9400:Clca4b
|
UTSW |
3 |
144,616,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Clca4b
|
UTSW |
3 |
144,638,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9474:Clca4b
|
UTSW |
3 |
144,616,927 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9479:Clca4b
|
UTSW |
3 |
144,617,100 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9493:Clca4b
|
UTSW |
3 |
144,632,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Clca4b
|
UTSW |
3 |
144,632,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Clca4b
|
UTSW |
3 |
144,621,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGAGCGTACCATGCGTAGGAC -3'
(R):5'- TCGTTGCACACTAAATGCTTGCTG -3'
Sequencing Primer
(F):5'- ggacacttactaagcactttgatg -3'
(R):5'- ACTAAATGCTTGCTGCATGTTTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation